PubMed:10419498 / 132-286 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":108,"end":126},"obj":"HP_0000006"},{"id":"T2","span":{"begin":145,"end":153},"obj":"HP_0003198"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10419498-1#79#85#gene1293","span":{"begin":79,"end":85},"obj":"gene1293"},{"id":"10419498-1#108#135#diseaseC3899989","span":{"begin":108,"end":135},"obj":"diseaseC3899989"}],"relations":[{"id":"79#85#gene1293108#135#diseaseC3899989","pred":"associated_with","subj":"10419498-1#79#85#gene1293","obj":"10419498-1#108#135#diseaseC3899989"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":145,"end":153},"obj":"HP:0003198"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":137,"end":153},"obj":"ORDO:610"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":154},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":154},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"HP-phenotype","denotations":[{"id":"T2","span":{"begin":145,"end":153},"obj":"Phenotype"}],"attributes":[{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003198"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}

{"project":"mondo_disease","denotations":[{"id":"T3","span":{"begin":137,"end":153},"obj":"Disease"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0008029"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0024530"}],"text":"Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy."}